anticorps ANFH, anticorps AOM, anticorps COL11A3, anticorps SEDC, anticorps Col2, anticorps Col2a, anticorps Col2a-1, anticorps Del1, anticorps Dmm, anticorps Lpk, anticorps M100856, anticorps Rgsc856, anticorps CG2A1A, anticorps COLLII, anticorps col2a1a, anticorps CB11, anticorps col2a1, anticorps coll2a1, anticorps fb38c06, anticorps fc10c01, anticorps wu:fb38c06, anticorps wu:fc10c01, anticorps collagen type II alpha 1 chain, anticorps collagen, type II, alpha 1, anticorps collagen, type II, alpha 1 L homeolog, anticorps collagen, type II, alpha 1 S homeolog, anticorps collagen, type II, alpha 1a, anticorps COL2A1, anticorps Col2a1, anticorps col2a1, anticorps col2a1.L, anticorps col2a1.S, anticorps col2a1a
Sujet
This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene.,COL2A1,ANFH,AOM,COL11A3,SEDC,STL1,Signal Transduction,Cell Biology & Developmental Biology,Cytoskeleton,Extracellular Matrix,Collagen,Bone,Stem Cells,Mesenchymal Stem Cells,COL2A1